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Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients

MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. All consecutive patients enrolled...

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Dades bibliogràfiques
Publicat a:Acta Otorhinolaryngol Ital
Autors principals: Canzi, P., Pecci, A., Manfrin, M., Rebecchi, E., Zaninetti, C., Bozzi, V., Benazzo, M.
Format: Artigo
Idioma:Inglês
Publicat: Pacini Editore SRL 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5225798/
https://ncbi.nlm.nih.gov/pubmed/27958602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14639/0392-100X-702
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